Gastrointestinal Stromal Tumors associated with Neurofibromatosis Type I: A Report of Two Cases.
- Author:
Joo Heon KIM
1
;
Ock Seong IN
;
Seong Kyu LEE
;
Haing Woon BAIK
;
Seong Ho KIM
;
Dong Wook KANG
;
Kyung Hee KIM
;
Mee Ja PARK
;
Yong Il KIM
Author Information
1. Department of Pathology, Eulji University College of Medicine, Daejeon, Korea. kjh2000@eulji.ac.kr
- Publication Type:Case Report
- Keywords:
Gastrointestinal stromal tumor;
Neurofibromatosis IO;
c-kit;
PDGFRA
- MeSH:
Carcinogenesis;
Exons;
Gastrointestinal Stromal Tumors*;
Gastrointestinal Tract;
Humans;
Interstitial Cells of Cajal;
Intestine, Small;
Molecular Biology;
Neurofibromatoses*;
Neurofibromatosis 1*
- From:Korean Journal of Pathology
2006;40(2):137-141
- CountryRepublic of Korea
- Language:English
-
Abstract:
Gastrointestinal stromal tumor (GIST) is the most common non-epithelial neoplasm arising in the gastrointestinal tract, but this tumor is rarely seen in association with type 1 neurofibromatosis (NF-1). We report here on two cases of multiple GISTs of the small intestine that occurred in NF-1 patients. We also analyzed the mutations of c-kit exons 9, 11, 13 and 17 and the plateletderived growth factor receptor-alpha (PDGFRA) exons 12 and 18 in two GIST patients. Histologically, the NF-1-associated GISTs were similar to those of non-the NF-1 GISTs, but they characteristically revealed hyperplastic interstitial cells of Cajal around the GISTs. Immunohistochemically, these tumors showed strong co-expressions of CD117 and CD34. The molecular genetic analysis of the GISTs showed that all of the c-kit and PDGFRA exons that were analyzed in the GISTs of the two patients were the wild-type, suggesting a limited role for the c-kit and PDGFRA mutations in the tumorigenesis of NF-1-associated GISTs.
